Human Phenotype Ontology 
Grandparent Node:
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Abnormal reflex (HP:0031826)help
Parent Node:
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Abnormal pyramidal sign (HP:0007256)help
Parent Node:
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Abnormal superficial reflex (HP:0031828)help
..Starting node
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Babinski sign (HP:0003487)help
Term ID: 3487
Name: Babinski sign
Synonym: Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign
Definition: Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Comments:
Reference: HP:0003487
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent abdominal reflex (HP:0031827) help
..expandAbsent cremaster reflex (HP:0031829) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003487HP:0003487Babinski sign0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM117413666605378
HP:0003487HP:0003487Babinski sign0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM116213666605378
HP:0003487HP:0003487Babinski sign0ABCB7 CL E G H22301310Anemia sideroblastic and spinocerebellar ataxia301310C1845028OMIM125148300135
HP:0003487HP:0003487Babinski sign0ABCB7 CL E G H22301310Anemia sideroblastic and spinocerebellar ataxia301310C1845028OMIM124648300135
HP:0003487HP:0003487Babinski sign0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0003487HP:0003487Babinski sign0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0003487HP:0003487Babinski sign0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0003487HP:0003487Babinski sign0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0003487HP:0003487Babinski sign0ADAR CL E G H103225154ORPHA1471225146920
HP:0003487HP:0003487Babinski sign0ADAR CL E G H103225154ORPHA1654225146920
HP:0003487HP:0003487Babinski sign0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM15364512604110
HP:0003487HP:0003487Babinski sign0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM14944512604110
HP:0003487HP:0003487Babinski sign0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0003487HP:0003487Babinski sign0AFG3L2 CL E G H10939101109ORPHA1349315604581
HP:0003487HP:0003487Babinski sign0AFG3L2 CL E G H10939101109ORPHA1357315604581
HP:0003487HP:0003487Babinski sign0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0003487HP:0003487Babinski sign0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H5832447753ORPHA13469722138250
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H5832447760ORPHA13469722138250
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H5832447757ORPHA13929722138250
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H5832447757ORPHA13469722138250
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H5832447753ORPHA13929722138250
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H5832447760ORPHA13929722138250
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13929722138250
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13469722138250
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13929722138250
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13469722138250
HP:0003487HP:0003487Babinski sign0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1524443606352
HP:0003487HP:0003487Babinski sign0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1644443606352
HP:0003487HP:0003487Babinski sign0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1644443606352
HP:0003487HP:0003487Babinski sign0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1524443606352
HP:0003487HP:0003487Babinski sign0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1644443606352
HP:0003487HP:0003487Babinski sign0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1524443606352
HP:0003487HP:0003487Babinski sign0AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0003487HP:0003487Babinski sign0AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0003487HP:0003487Babinski sign0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0003487HP:0003487Babinski sign0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0003487HP:0003487Babinski sign0AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0003487HP:0003487Babinski sign0AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0003487HP:0003487Babinski sign0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0003487HP:0003487Babinski sign0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0003487HP:0003487Babinski sign0AP4M1 CL E G H9179280763ORPHA1264574602296
HP:0003487HP:0003487Babinski sign0AP4M1 CL E G H9179280763ORPHA1199574602296
HP:0003487HP:0003487Babinski sign0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1264574602296
HP:0003487HP:0003487Babinski sign0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1199574602296
HP:0003487HP:0003487Babinski sign0AP4S1 CL E G H11154280763ORPHA1110575607243
HP:0003487HP:0003487Babinski sign0AP4S1 CL E G H11154280763ORPHA189575607243
HP:0003487HP:0003487Babinski sign0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0003487HP:0003487Babinski sign0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0003487HP:0003487Babinski sign0ATL1 CL E G H51062100984ORPHA131011231606439
HP:0003487HP:0003487Babinski sign0ATL1 CL E G H51062100984ORPHA135611231606439
HP:0003487HP:0003487Babinski sign0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM131011231606439
HP:0003487HP:0003487Babinski sign0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM135611231606439
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H23400314632ORPHA160930213610513
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H23400306674ORPHA160930213610513
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H23400314632ORPHA148730213610513
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H23400306674ORPHA148730213610513
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H23400513436ORPHA160930213610513
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H23400513436ORPHA148730213610513
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM160930213610513
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM148730213610513
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM160930213610513
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM148730213610513
HP:0003487HP:0003487Babinski sign0ATP6AP2 CL E G H10159363654ORPHA128618305300556
HP:0003487HP:0003487Babinski sign0ATP6AP2 CL E G H10159363654ORPHA126318305300556
HP:0003487HP:0003487Babinski sign0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM128618305300556
HP:0003487HP:0003487Babinski sign0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM126318305300556
HP:0003487HP:0003487Babinski sign0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0003487HP:0003487Babinski sign0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0003487HP:0003487Babinski sign0ATXN3 CL E G H4287276244ORPHA1447106607047
HP:0003487HP:0003487Babinski sign0ATXN3 CL E G H4287276241ORPHA1447106607047
HP:0003487HP:0003487Babinski sign0ATXN3 CL E G H4287276238ORPHA1447106607047
HP:0003487HP:0003487Babinski sign0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1447106607047
HP:0003487HP:0003487Babinski sign0ATXN7 CL E G H631494147ORPHA13910560607640
HP:0003487HP:0003487Babinski sign0ATXN7 CL E G H631494147ORPHA13710560607640
HP:0003487HP:0003487Babinski sign0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13910560607640
HP:0003487HP:0003487Babinski sign0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13710560607640
HP:0003487HP:0003487Babinski sign0B4GALNT1 CL E G H2583101006ORPHA11484117601873
HP:0003487HP:0003487Babinski sign0B4GALNT1 CL E G H2583101006ORPHA11694117601873
HP:0003487HP:0003487Babinski sign0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11694117601873
HP:0003487HP:0003487Babinski sign0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11484117601873
HP:0003487HP:0003487Babinski sign0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0003487HP:0003487Babinski sign0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0003487HP:0003487Babinski sign0BSCL2 CL E G H26580100998ORPHA133015832606158
HP:0003487HP:0003487Babinski sign0BSCL2 CL E G H26580100998ORPHA137315832606158
HP:0003487HP:0003487Babinski sign0BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM137315832606158
HP:0003487HP:0003487Babinski sign0BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM133015832606158
HP:0003487HP:0003487Babinski sign0C12orf65 CL E G H91574320375ORPHA126784613541
HP:0003487HP:0003487Babinski sign0C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM126784613541
HP:0003487HP:0003487Babinski sign0C19orf12 CL E G H83636320370ORPHA124825443614297
HP:0003487HP:0003487Babinski sign0C19orf12 CL E G H83636289560ORPHA124825443614297
HP:0003487HP:0003487Babinski sign0C19orf12 CL E G H83636320370ORPHA124025443614297
HP:0003487HP:0003487Babinski sign0C19orf12 CL E G H83636289560ORPHA124025443614297
HP:0003487HP:0003487Babinski sign0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124825443614297
HP:0003487HP:0003487Babinski sign0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124025443614297
HP:0003487HP:0003487Babinski sign0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM124825443614297
HP:0003487HP:0003487Babinski sign0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM124025443614297
HP:0003487HP:0003487Babinski sign0CACNA1A CL E G H77398758ORPHA120471388601011
HP:0003487HP:0003487Babinski sign0CACNA1A CL E G H77398758ORPHA123261388601011
HP:0003487HP:0003487Babinski sign0CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0003487HP:0003487Babinski sign0CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0003487HP:0003487Babinski sign0CAPN1 CL E G H823488594ORPHA11001476114220
HP:0003487HP:0003487Babinski sign0CAPN1 CL E G H823488594ORPHA1841476114220
HP:0003487HP:0003487Babinski sign0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1851527601047
HP:0003487HP:0003487Babinski sign0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1811527601047
HP:0003487HP:0003487Babinski sign0CCT5 CL E G H22948139578ORPHA12931618610150
HP:0003487HP:0003487Babinski sign0CCT5 CL E G H22948139578ORPHA13061618610150
HP:0003487HP:0003487Babinski sign0CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13061618610150
HP:0003487HP:0003487Babinski sign0CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM12931618610150
HP:0003487HP:0003487Babinski sign0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM123015559615903
HP:0003487HP:0003487Babinski sign0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM120515559615903
HP:0003487HP:0003487Babinski sign0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0003487HP:0003487Babinski sign0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0003487HP:0003487Babinski sign0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12168011602346
HP:0003487HP:0003487Babinski sign0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM11588011602346
HP:0003487HP:0003487Babinski sign0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM110102202120130
HP:0003487HP:0003487Babinski sign0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM18372202120130
HP:0003487HP:0003487Babinski sign0CPT1C CL E G H126129444099ORPHA19918540608846
HP:0003487HP:0003487Babinski sign0CPT1C CL E G H126129444099ORPHA111618540608846
HP:0003487HP:0003487Babinski sign0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM111618540608846
HP:0003487HP:0003487Babinski sign0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM19918540608846
HP:0003487HP:0003487Babinski sign0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0003487HP:0003487Babinski sign0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0003487HP:0003487Babinski sign0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11402531603539
HP:0003487HP:0003487Babinski sign0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11292531603539
HP:0003487HP:0003487Babinski sign0CWF19L1 CL E G H55280453521ORPHA15925613616120
HP:0003487HP:0003487Babinski sign0CYP2U1 CL E G H113612320411ORPHA117220582610670
HP:0003487HP:0003487Babinski sign0CYP2U1 CL E G H113612320411ORPHA112520582610670
HP:0003487HP:0003487Babinski sign0CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM117220582610670
HP:0003487HP:0003487Babinski sign0CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM112520582610670
HP:0003487HP:0003487Babinski sign0CYP7B1 CL E G H9420100986ORPHA12392652603711
HP:0003487HP:0003487Babinski sign0CYP7B1 CL E G H9420100986ORPHA12952652603711
HP:0003487HP:0003487Babinski sign0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM12952652603711
HP:0003487HP:0003487Babinski sign0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM12392652603711
HP:0003487HP:0003487Babinski sign0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0003487HP:0003487Babinski sign0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM126625538610956
HP:0003487HP:0003487Babinski sign0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM123625538610956
HP:0003487HP:0003487Babinski sign0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0003487HP:0003487Babinski sign0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0003487HP:0003487Babinski sign0DDHD1 CL E G H80821101008ORPHA128019714614603
HP:0003487HP:0003487Babinski sign0DDHD1 CL E G H80821101008ORPHA122619714614603
HP:0003487HP:0003487Babinski sign0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM128019714614603
HP:0003487HP:0003487Babinski sign0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM122619714614603
HP:0003487HP:0003487Babinski sign0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM123029106615003
HP:0003487HP:0003487Babinski sign0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM119229106615003
HP:0003487HP:0003487Babinski sign0DPM3 CL E G H54344263494ORPHA1593007605951
HP:0003487HP:0003487Babinski sign0DPM3 CL E G H54344263494ORPHA1503007605951
HP:0003487HP:0003487Babinski sign0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM18629043612666
HP:0003487HP:0003487Babinski sign0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM17529043612666
HP:0003487HP:0003487Babinski sign0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0003487HP:0003487Babinski sign0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0003487HP:0003487Babinski sign0ERLIN2 CL E G H11160209951ORPHA11471356611605
HP:0003487HP:0003487Babinski sign0ERLIN2 CL E G H11160209951ORPHA11381356611605
HP:0003487HP:0003487Babinski sign0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11471356611605
HP:0003487HP:0003487Babinski sign0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11381356611605
HP:0003487HP:0003487Babinski sign0FA2H CL E G H79152171629ORPHA127521197611026
HP:0003487HP:0003487Babinski sign0FA2H CL E G H79152171629ORPHA124121197611026
HP:0003487HP:0003487Babinski sign0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM127521197611026
HP:0003487HP:0003487Babinski sign0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM124121197611026
HP:0003487HP:0003487Babinski sign0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM125124587610531
HP:0003487HP:0003487Babinski sign0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM122524587610531
HP:0003487HP:0003487Babinski sign0FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM142921062611592
HP:0003487HP:0003487Babinski sign0FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM136121062611592
HP:0003487HP:0003487Babinski sign0FBXO7 CL E G H25793171695ORPHA116113586605648
HP:0003487HP:0003487Babinski sign0FBXO7 CL E G H25793171695ORPHA118313586605648
HP:0003487HP:0003487Babinski sign0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM118313586605648
HP:0003487HP:0003487Babinski sign0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM116113586605648
HP:0003487HP:0003487Babinski sign0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11383999134790
HP:0003487HP:0003487Babinski sign0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11093999134790
HP:0003487HP:0003487Babinski sign0FXN CL E G H239595ORPHA11313951606829
HP:0003487HP:0003487Babinski sign0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11313951606829
HP:0003487HP:0003487Babinski sign0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11624092605363
HP:0003487HP:0003487Babinski sign0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11414092605363
HP:0003487HP:0003487Babinski sign0GBA2 CL E G H57704320391ORPHA126218986609471
HP:0003487HP:0003487Babinski sign0GBA2 CL E G H57704352641ORPHA126218986609471
HP:0003487HP:0003487Babinski sign0GBA2 CL E G H57704320391ORPHA124618986609471
HP:0003487HP:0003487Babinski sign0GBA2 CL E G H57704352641ORPHA124618986609471
HP:0003487HP:0003487Babinski sign0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM126218986609471
HP:0003487HP:0003487Babinski sign0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM124618986609471
HP:0003487HP:0003487Babinski sign0GCH1 CL E G H264398808ORPHA12574193600225
HP:0003487HP:0003487Babinski sign0GCH1 CL E G H264398808ORPHA13154193600225
HP:0003487HP:0003487Babinski sign0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM13154193600225
HP:0003487HP:0003487Babinski sign0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM12574193600225
HP:0003487HP:0003487Babinski sign0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM122117494608803
HP:0003487HP:0003487Babinski sign0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM117417494608803
HP:0003487HP:0003487Babinski sign0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM122117494608803
HP:0003487HP:0003487Babinski sign0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM117417494608803
HP:0003487HP:0003487Babinski sign0GLRX5 CL E G H51218401866ORPHA16020134609588
HP:0003487HP:0003487Babinski sign0GLRX5 CL E G H51218401866ORPHA16820134609588
HP:0003487HP:0003487Babinski sign0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM16820134609588
HP:0003487HP:0003487Babinski sign0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM16020134609588
HP:0003487HP:0003487Babinski sign0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17618062138210
HP:0003487HP:0003487Babinski sign0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17418062138210
HP:0003487HP:0003487Babinski sign0HSPD1 CL E G H3329100994ORPHA11575261118190
HP:0003487HP:0003487Babinski sign0HSPD1 CL E G H3329100994ORPHA11815261118190
HP:0003487HP:0003487Babinski sign0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11815261118190
HP:0003487HP:0003487Babinski sign0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11575261118190
HP:0003487HP:0003487Babinski sign0HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM11815261118190
HP:0003487HP:0003487Babinski sign0HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM11575261118190
HP:0003487HP:0003487Babinski sign0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11969476602194
HP:0003487HP:0003487Babinski sign0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11649476602194
HP:0003487HP:0003487Babinski sign0IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM116127302615316
HP:0003487HP:0003487Babinski sign0IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM114027302615316
HP:0003487HP:0003487Babinski sign0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM14386218176260
HP:0003487HP:0003487Babinski sign0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM13906218176260
HP:0003487HP:0003487Babinski sign0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM150911114314690
HP:0003487HP:0003487Babinski sign0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM148111114314690
HP:0003487HP:0003487Babinski sign0KIF1A CL E G H547101010ORPHA11441888601255
HP:0003487HP:0003487Babinski sign0KIF1A CL E G H547101010ORPHA11735888601255
HP:0003487HP:0003487Babinski sign0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM11735888601255
HP:0003487HP:0003487Babinski sign0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM11441888601255
HP:0003487HP:0003487Babinski sign0KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM11735888601255
HP:0003487HP:0003487Babinski sign0KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM11441888601255
HP:0003487HP:0003487Babinski sign0KIF1C CL E G H10749397946ORPHA13356317603060
HP:0003487HP:0003487Babinski sign0KIF1C CL E G H10749397946ORPHA12866317603060
HP:0003487HP:0003487Babinski sign0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0003487HP:0003487Babinski sign0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0003487HP:0003487Babinski sign0KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM15486323602821
HP:0003487HP:0003487Babinski sign0KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM13696323602821
HP:0003487HP:0003487Babinski sign0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15976511603590
HP:0003487HP:0003487Babinski sign0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15166511603590
HP:0003487HP:0003487Babinski sign0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11296637150340
HP:0003487HP:0003487Babinski sign0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11516637150340
HP:0003487HP:0003487Babinski sign0MAG CL E G H4099459056ORPHA11466783159460
HP:0003487HP:0003487Babinski sign0MAG CL E G H4099459056ORPHA11106783159460
HP:0003487HP:0003487Babinski sign0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11466783159460
HP:0003487HP:0003487Babinski sign0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11106783159460
HP:0003487HP:0003487Babinski sign0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM17906826609458
HP:0003487HP:0003487Babinski sign0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM16536826609458
HP:0003487HP:0003487Babinski sign0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM144813356605248
HP:0003487HP:0003487Babinski sign0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM141813356605248
HP:0003487HP:0003487Babinski sign0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM116846990300005
HP:0003487HP:0003487Babinski sign0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM116036990300005
HP:0003487HP:0003487Babinski sign0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM194416877608507
HP:0003487HP:0003487Babinski sign0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM182416877608507
HP:0003487HP:0003487Babinski sign0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0003487HP:0003487Babinski sign0MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003487HP:0003487Babinski sign0MT-TE CL E G H45562596HantavirosisORPHA17479590025
HP:0003487HP:0003487Babinski sign0MTPAP CL E G H55149254343ORPHA118025532613669
HP:0003487HP:0003487Babinski sign0MTPAP CL E G H55149254343ORPHA114525532613669
HP:0003487HP:0003487Babinski sign0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM118025532613669
HP:0003487HP:0003487Babinski sign0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM114525532613669
HP:0003487HP:0003487Babinski sign0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM12637707157655
HP:0003487HP:0003487Babinski sign0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13017707157655
HP:0003487HP:0003487Babinski sign0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11017711602694
HP:0003487HP:0003487Babinski sign0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM1977711602694
HP:0003487HP:0003487Babinski sign0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM14897739162280
HP:0003487HP:0003487Babinski sign0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM14387739162280
HP:0003487HP:0003487Babinski sign0NIPA1 CL E G H123606100988ORPHA155717043608145
HP:0003487HP:0003487Babinski sign0NIPA1 CL E G H123606100988ORPHA152617043608145
HP:0003487HP:0003487Babinski sign0NIPA1 CL E G H123606600363Spastic paraplegia 6600363C1838192OMIM155717043608145
HP:0003487HP:0003487Babinski sign0NIPA1 CL E G H123606600363Spastic paraplegia 6600363C1838192OMIM152617043608145
HP:0003487HP:0003487Babinski sign0NOP56 CL E G H10528276198ORPHA14315911614154
HP:0003487HP:0003487Babinski sign0NOP56 CL E G H10528276198ORPHA14415911614154
HP:0003487HP:0003487Babinski sign0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM14415911614154
HP:0003487HP:0003487Babinski sign0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM14315911614154
HP:0003487HP:0003487Babinski sign0NT5C2 CL E G H22978320396ORPHA11488022600417
HP:0003487HP:0003487Babinski sign0NT5C2 CL E G H22978320396ORPHA11388022600417
HP:0003487HP:0003487Babinski sign0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM11488022600417
HP:0003487HP:0003487Babinski sign0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM11388022600417
HP:0003487HP:0003487Babinski sign0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123120278613621
HP:0003487HP:0003487Babinski sign0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM122220278613621
HP:0003487HP:0003487Babinski sign0NUP62 CL E G H23636225154ORPHA1778066605815
HP:0003487HP:0003487Babinski sign0NUP62 CL E G H23636225154ORPHA1438066605815
HP:0003487HP:0003487Babinski sign0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM17398140605290
HP:0003487HP:0003487Babinski sign0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM15988140605290
HP:0003487HP:0003487Babinski sign0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM14018142606580
HP:0003487HP:0003487Babinski sign0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM13728142606580
HP:0003487HP:0003487Babinski sign0PDYN CL E G H5173101108ORPHA11598820131340
HP:0003487HP:0003487Babinski sign0PDYN CL E G H5173101108ORPHA11448820131340
HP:0003487HP:0003487Babinski sign0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11598820131340
HP:0003487HP:0003487Babinski sign0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11448820131340
HP:0003487HP:0003487Babinski sign0PGAP1 CL E G H80055401820ORPHA117425712611655
HP:0003487HP:0003487Babinski sign0PGAP1 CL E G H80055401820ORPHA120925712611655
HP:0003487HP:0003487Babinski sign0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM114214938610272
HP:0003487HP:0003487Babinski sign0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM111814938610272
HP:0003487HP:0003487Babinski sign0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0003487HP:0003487Babinski sign0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0003487HP:0003487Babinski sign0PLP1 CL E G H535499015ORPHA13359086300401
HP:0003487HP:0003487Babinski sign0PLP1 CL E G H535499015ORPHA13659086300401
HP:0003487HP:0003487Babinski sign0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13659086300401
HP:0003487HP:0003487Babinski sign0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13359086300401
HP:0003487HP:0003487Babinski sign0PNPLA6 CL E G H10908139480ORPHA180816268603197
HP:0003487HP:0003487Babinski sign0PNPLA6 CL E G H10908139480ORPHA166916268603197
HP:0003487HP:0003487Babinski sign0PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM180816268603197
HP:0003487HP:0003487Babinski sign0PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM166916268603197
HP:0003487HP:0003487Babinski sign0POLR3A CL E G H11128447896ORPHA165430074614258
HP:0003487HP:0003487Babinski sign0POLR3A CL E G H11128447896ORPHA148430074614258
HP:0003487HP:0003487Babinski sign0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM165430074614258
HP:0003487HP:0003487Babinski sign0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM148430074614258
HP:0003487HP:0003487Babinski sign0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM132630348614366
HP:0003487HP:0003487Babinski sign0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM129730348614366
HP:0003487HP:0003487Babinski sign0PRICKLE1 CL E G H144165612437Progressive myoclonus epilepsy with ataxia612437C2676254OMIM144917019608500
HP:0003487HP:0003487Babinski sign0PRICKLE1 CL E G H144165612437Progressive myoclonus epilepsy with ataxia612437C2676254OMIM139317019608500
HP:0003487HP:0003487Babinski sign0PRNP CL E G H5621282166ORPHA11469449176640
HP:0003487HP:0003487Babinski sign0PRNP CL E G H5621282166ORPHA11319449176640
HP:0003487HP:0003487Babinski sign0PRSS12 CL E G H8492249500Mental retardation, autosomal recessive 1249500C1855304OMIM11729477606709
HP:0003487HP:0003487Babinski sign0PRSS12 CL E G H8492249500Mental retardation, autosomal recessive 1249500C1855304OMIM11659477606709
HP:0003487HP:0003487Babinski sign0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM15029498176801
HP:0003487HP:0003487Babinski sign0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM13909498176801
HP:0003487HP:0003487Babinski sign0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM15029498176801
HP:0003487HP:0003487Babinski sign0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM13909498176801
HP:0003487HP:0003487Babinski sign0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14319508104311
HP:0003487HP:0003487Babinski sign0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14089508104311
HP:0003487HP:0003487Babinski sign0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM18930262616406
HP:0003487HP:0003487Babinski sign0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM17730262616406
HP:0003487HP:0003487Babinski sign0REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM134425786609139
HP:0003487HP:0003487Babinski sign0REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM131525786609139
HP:0003487HP:0003487Babinski sign0REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM16717975609347
HP:0003487HP:0003487Babinski sign0REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM15917975609347
HP:0003487HP:0003487Babinski sign0RNF170 CL E G H81790608984Ataxia, sensory, autosomal dominant608984C1837015OMIM16225358614649
HP:0003487HP:0003487Babinski sign0RNF170 CL E G H81790608984Ataxia, sensory, autosomal dominant608984C1837015OMIM16125358614649
HP:0003487HP:0003487Babinski sign0RTN2 CL E G H6253100993ORPHA117210468603183
HP:0003487HP:0003487Babinski sign0RTN2 CL E G H6253100993ORPHA115210468603183
HP:0003487HP:0003487Babinski sign0RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM117210468603183
HP:0003487HP:0003487Babinski sign0RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM115210468603183
HP:0003487HP:0003487Babinski sign0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM141223625611053
HP:0003487HP:0003487Babinski sign0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM111823625611053
HP:0003487HP:0003487Babinski sign0SACS CL E G H2627898ORPHA1208810519604490
HP:0003487HP:0003487Babinski sign0SACS CL E G H2627898ORPHA1191410519604490
HP:0003487HP:0003487Babinski sign0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1208810519604490
HP:0003487HP:0003487Babinski sign0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1191410519604490
HP:0003487HP:0003487Babinski sign0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM11381349611170
HP:0003487HP:0003487Babinski sign0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM12901349611170
HP:0003487HP:0003487Babinski sign0SDHA CL E G H63893208ORPHA1177810680600857
HP:0003487HP:0003487Babinski sign0SDHA CL E G H63893208ORPHA1154510680600857
HP:0003487HP:0003487Babinski sign0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1177810680600857
HP:0003487HP:0003487Babinski sign0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1154510680600857
HP:0003487HP:0003487Babinski sign0SDHAF1 CL E G H6440963208ORPHA15433867612848
HP:0003487HP:0003487Babinski sign0SDHAF1 CL E G H6440963208ORPHA14633867612848
HP:0003487HP:0003487Babinski sign0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM15433867612848
HP:0003487HP:0003487Babinski sign0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM14633867612848
HP:0003487HP:0003487Babinski sign0SDHB CL E G H63903208ORPHA192610681185470
HP:0003487HP:0003487Babinski sign0SDHB CL E G H63903208ORPHA182410681185470
HP:0003487HP:0003487Babinski sign0SDHD CL E G H63923208ORPHA150710683602690
HP:0003487HP:0003487Babinski sign0SDHD CL E G H63923208ORPHA144210683602690
HP:0003487HP:0003487Babinski sign0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM150710683602690
HP:0003487HP:0003487Babinski sign0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM144210683602690
HP:0003487HP:0003487Babinski sign0SETX CL E G H23064357043ORPHA11087445608465
HP:0003487HP:0003487Babinski sign0SETX CL E G H23064357043ORPHA1941445608465
HP:0003487HP:0003487Babinski sign0SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11087445608465
HP:0003487HP:0003487Babinski sign0SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM1941445608465
HP:0003487HP:0003487Babinski sign0SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM11798157601978
HP:0003487HP:0003487Babinski sign0SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM11618157601978
HP:0003487HP:0003487Babinski sign0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM131810923300095
HP:0003487HP:0003487Babinski sign0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM129010923300095
HP:0003487HP:0003487Babinski sign0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM146116266606152
HP:0003487HP:0003487Babinski sign0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM140016266606152
HP:0003487HP:0003487Babinski sign0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM110510942600229
HP:0003487HP:0003487Babinski sign0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM17110942600229
HP:0003487HP:0003487Babinski sign0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM175311005138140
HP:0003487HP:0003487Babinski sign0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM167211005138140
HP:0003487HP:0003487Babinski sign0SLC33A1 CL E G H9197171863ORPHA110195603690
HP:0003487HP:0003487Babinski sign0SLC33A1 CL E G H9197171863ORPHA112695603690
HP:0003487HP:0003487Babinski sign0SLC33A1 CL E G H9197612539Spastic paraplegia 42, autosomal dominant612539C2675528OMIM112695603690
HP:0003487HP:0003487Babinski sign0SLC33A1 CL E G H9197612539Spastic paraplegia 42, autosomal dominant612539C2675528OMIM110195603690
HP:0003487HP:0003487Babinski sign0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM115120858608736
HP:0003487HP:0003487Babinski sign0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM113620858608736
HP:0003487HP:0003487Babinski sign0SNCA CL E G H6622171695ORPHA116611138163890
HP:0003487HP:0003487Babinski sign0SNCA CL E G H6622171695ORPHA115411138163890
HP:0003487HP:0003487Babinski sign0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM115114977616105
HP:0003487HP:0003487Babinski sign0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM114614977616105
HP:0003487HP:0003487Babinski sign0SPART CL E G H23111101000ORPHA124618514607111
HP:0003487HP:0003487Babinski sign0SPART CL E G H23111101000ORPHA121518514607111
HP:0003487HP:0003487Babinski sign0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM124618514607111
HP:0003487HP:0003487Babinski sign0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM121518514607111
HP:0003487HP:0003487Babinski sign0SPAST CL E G H6683100985ORPHA192611233604277
HP:0003487HP:0003487Babinski sign0SPAST CL E G H6683100985ORPHA181811233604277
HP:0003487HP:0003487Babinski sign0SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM192611233604277
HP:0003487HP:0003487Babinski sign0SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM181811233604277
HP:0003487HP:0003487Babinski sign0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1186611226610844
HP:0003487HP:0003487Babinski sign0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1149411226610844
HP:0003487HP:0003487Babinski sign0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1186611226610844
HP:0003487HP:0003487Babinski sign0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1149411226610844
HP:0003487HP:0003487Babinski sign0SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM114020373608181
HP:0003487HP:0003487Babinski sign0SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM112220373608181
HP:0003487HP:0003487Babinski sign0SPG7 CL E G H668799013ORPHA172611237602783
HP:0003487HP:0003487Babinski sign0SPG7 CL E G H668799013ORPHA164811237602783
HP:0003487HP:0003487Babinski sign0SPG7 CL E G H668735689ORPHA172611237602783
HP:0003487HP:0003487Babinski sign0SPG7 CL E G H668735689ORPHA164811237602783
HP:0003487HP:0003487Babinski sign0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM172611237602783
HP:0003487HP:0003487Babinski sign0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM164811237602783
HP:0003487HP:0003487Babinski sign0TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM112211536604912
HP:0003487HP:0003487Babinski sign0TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM19011536604912
HP:0003487HP:0003487Babinski sign0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM122511571605078
HP:0003487HP:0003487Babinski sign0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM121411571605078
HP:0003487HP:0003487Babinski sign0TFG CL E G H10342431329ORPHA126311758602498
HP:0003487HP:0003487Babinski sign0TFG CL E G H10342431329ORPHA123711758602498
HP:0003487HP:0003487Babinski sign0TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM126311758602498
HP:0003487HP:0003487Babinski sign0TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM123711758602498
HP:0003487HP:0003487Babinski sign0TGM6 CL E G H343641276193ORPHA127516255613900
HP:0003487HP:0003487Babinski sign0TGM6 CL E G H343641276193ORPHA127016255613900
HP:0003487HP:0003487Babinski sign0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM127516255613900
HP:0003487HP:0003487Babinski sign0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM127016255613900
HP:0003487HP:0003487Babinski sign0TH CL E G H7054101150ORPHA155011782191290
HP:0003487HP:0003487Babinski sign0TH CL E G H7054101150ORPHA165511782191290
HP:0003487HP:0003487Babinski sign0TPP1 CL E G H1200284324ORPHA17452073607998
HP:0003487HP:0003487Babinski sign0TPP1 CL E G H1200284324ORPHA16452073607998
HP:0003487HP:0003487Babinski sign0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM17452073607998
HP:0003487HP:0003487Babinski sign0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM16452073607998
HP:0003487HP:0003487Babinski sign0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM17523141611023
HP:0003487HP:0003487Babinski sign0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM15123141611023
HP:0003487HP:0003487Babinski sign0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM122828422608753
HP:0003487HP:0003487Babinski sign0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM120828422608753
HP:0003487HP:0003487Babinski sign0TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM15212449604142
HP:0003487HP:0003487Babinski sign0TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM17312449604142
HP:0003487HP:0003487Babinski sign0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0003487HP:0003487Babinski sign0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0003487HP:0003487Babinski sign0VAMP1 CL E G H6843251282ORPHA19912642185880
HP:0003487HP:0003487Babinski sign0VAMP1 CL E G H6843251282ORPHA18312642185880
HP:0003487HP:0003487Babinski sign0VCP CL E G H7415329475ORPHA139512666601023
HP:0003487HP:0003487Babinski sign0VCP CL E G H7415329475ORPHA135612666601023
HP:0003487HP:0003487Babinski sign0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM126623595608877
HP:0003487HP:0003487Babinski sign0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM119123595608877
HP:0003487HP:0003487Babinski sign0WASHC5 CL E G H9897100989ORPHA145728984610657
HP:0003487HP:0003487Babinski sign0WASHC5 CL E G H9897100989ORPHA149328984610657
HP:0003487HP:0003487Babinski sign0WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM149328984610657
HP:0003487HP:0003487Babinski sign0WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM145728984610657
HP:0003487HP:0003487Babinski sign0ZFR CL E G H51663401840ORPHA16817277615635
HP:0003487HP:0003487Babinski sign0ZFR CL E G H51663401840ORPHA16217277615635
HP:0003487HP:0003487Babinski sign0ZFYVE26 CL E G H23503100996ORPHA1145720761612012
HP:0003487HP:0003487Babinski sign0ZFYVE26 CL E G H23503100996ORPHA1126420761612012
HP:0003487HP:0003487Babinski sign0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1145720761612012
HP:0003487HP:0003487Babinski sign0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1126420761612012
HP:0003487HP:0003487Babinski sign0ZFYVE27 CL E G H118813610244Spastic paraplegia 33, autosomal dominant610244C1853251OMIM114526559610243
HP:0003487HP:0003487Babinski sign0ZFYVE27 CL E G H118813610244Spastic paraplegia 33, autosomal dominant610244C1853251OMIM114126559610243
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410309256ORPHA0841713607574
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410309263ORPHA0841713607574
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410309271ORPHA0841713607574
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410309263ORPHA0732713607574
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410309271ORPHA0732713607574
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410309256ORPHA0732713607574
HP:0003487HP:0003487Babinski sign0ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM028618305300556
HP:0003487HP:0003487Babinski sign0ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM026318305300556
HP:0003487HP:0003487Babinski sign0ATXN10 CL E G H2581498761ORPHA010110549611150
HP:0003487HP:0003487Babinski sign0ATXN10 CL E G H2581498761ORPHA09910549611150
HP:0003487HP:0003487Babinski sign0C9orf72 CL E G H203228275872ORPHA016128337614260
HP:0003487HP:0003487Babinski sign0C9orf72 CL E G H203228275872ORPHA016528337614260
HP:0003487HP:0003487Babinski sign0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM03741394604065
HP:0003487HP:0003487Babinski sign0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM03571394604065
HP:0003487HP:0003487Babinski sign0CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM01001476114220
HP:0003487HP:0003487Babinski sign0CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM0841476114220
HP:0003487HP:0003487Babinski sign0CHCHD10 CL E G H400916275872ORPHA023015559615903
HP:0003487HP:0003487Babinski sign0CHCHD10 CL E G H400916275872ORPHA020515559615903
HP:0003487HP:0003487Babinski sign0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM013024537609512
HP:0003487HP:0003487Babinski sign0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM011024537609512
HP:0003487HP:0003487Babinski sign0DKK1 CL E G H22943268882ORPHA0242891605189
HP:0003487HP:0003487Babinski sign0DNAJC3 CL E G H5611445062ORPHA0909439601184
HP:0003487HP:0003487Babinski sign0DNAJC3 CL E G H5611445062ORPHA0869439601184
HP:0003487HP:0003487Babinski sign0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM0909439601184
HP:0003487HP:0003487Babinski sign0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM0869439601184
HP:0003487HP:0003487Babinski sign0DNMT1 CL E G H1786314404ORPHA08322976126375
HP:0003487HP:0003487Babinski sign0DNMT1 CL E G H1786314404ORPHA07492976126375
HP:0003487HP:0003487Babinski sign0EEF2 CL E G H1938101112ORPHA01743214130610
HP:0003487HP:0003487Babinski sign0EEF2 CL E G H1938101112ORPHA01703214130610
HP:0003487HP:0003487Babinski sign0ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM08416947611604
HP:0003487HP:0003487Babinski sign0ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM05916947611604
HP:0003487HP:0003487Babinski sign0FUS CL E G H2521275872ORPHA03234010137070
HP:0003487HP:0003487Babinski sign0FUS CL E G H2521275872ORPHA03394010137070
HP:0003487HP:0003487Babinski sign0GAN CL E G H8139643ORPHA05944137605379
HP:0003487HP:0003487Babinski sign0GAN CL E G H8139643ORPHA05334137605379
HP:0003487HP:0003487Babinski sign0GJB1 CL E G H27051175CDK4 linked melanomaORPHA07714283304040
HP:0003487HP:0003487Babinski sign0GJB1 CL E G H27051175CDK4 linked melanomaORPHA07324283304040
HP:0003487HP:0003487Babinski sign0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM07714283304040
HP:0003487HP:0003487Babinski sign0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM07324283304040
HP:0003487HP:0003487Babinski sign0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM01514576602368
HP:0003487HP:0003487Babinski sign0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM01444576602368
HP:0003487HP:0003487Babinski sign0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA05274801600890
HP:0003487HP:0003487Babinski sign0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA04774801600890
HP:0003487HP:0003487Babinski sign0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02134803143450
HP:0003487HP:0003487Babinski sign0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02424803143450
HP:0003487HP:0003487Babinski sign0IBA57 CL E G H200205468661ORPHA016127302615316
HP:0003487HP:0003487Babinski sign0IBA57 CL E G H200205468661ORPHA014027302615316
HP:0003487HP:0003487Babinski sign0KY CL E G H339855496689ORPHA07926576605739
HP:0003487HP:0003487Babinski sign0KY CL E G H339855496689ORPHA07826576605739
HP:0003487HP:0003487Babinski sign0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM01696971154100
HP:0003487HP:0003487Babinski sign0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM0906971154100
HP:0003487HP:0003487Babinski sign0MFN2 CL E G H992799947ORPHA094416877608507
HP:0003487HP:0003487Babinski sign0MFN2 CL E G H992799947ORPHA082416877608507
HP:0003487HP:0003487Babinski sign0MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0003487HP:0003487Babinski sign0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM03007737162230
HP:0003487HP:0003487Babinski sign0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM01507737162230
HP:0003487HP:0003487Babinski sign0PIK3R5 CL E G H2353364753ORPHA04830035611317
HP:0003487HP:0003487Babinski sign0PSAP CL E G H5660309256ORPHA05029498176801
HP:0003487HP:0003487Babinski sign0PSAP CL E G H5660309263ORPHA05029498176801
HP:0003487HP:0003487Babinski sign0PSAP CL E G H5660309271ORPHA05029498176801
HP:0003487HP:0003487Babinski sign0PSAP CL E G H5660309256ORPHA03909498176801
HP:0003487HP:0003487Babinski sign0PSAP CL E G H5660309263ORPHA03909498176801
HP:0003487HP:0003487Babinski sign0PSAP CL E G H5660309271ORPHA03909498176801
HP:0003487HP:0003487Babinski sign0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM09518466604123
HP:0003487HP:0003487Babinski sign0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM08618466604123
HP:0003487HP:0003487Babinski sign0SETX CL E G H2306464753ORPHA0941445608465
HP:0003487HP:0003487Babinski sign0SETX CL E G H2306464753ORPHA01087445608465
HP:0003487HP:0003487Babinski sign0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM027425198610826
HP:0003487HP:0003487Babinski sign0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM023825198610826
HP:0003487HP:0003487Babinski sign0SQSTM1 CL E G H8878275872ORPHA047311280601530
HP:0003487HP:0003487Babinski sign0SQSTM1 CL E G H8878275872ORPHA038311280601530
HP:0003487HP:0003487Babinski sign0TARDBP CL E G H23435275872ORPHA021411571605078
HP:0003487HP:0003487Babinski sign0TARDBP CL E G H23435275872ORPHA022511571605078
HP:0003487HP:0003487Babinski sign0TBK1 CL E G H29110275872ORPHA026911584604834
HP:0003487HP:0003487Babinski sign0TBK1 CL E G H29110275872ORPHA020611584604834
HP:0003487HP:0003487Babinski sign0TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM05216791608756
HP:0003487HP:0003487Babinski sign0TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM05116791608756
HP:0003487HP:0003487Babinski sign0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM023626006613814
HP:0003487HP:0003487Babinski sign0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM024926006613814
HP:0003487HP:0003487Babinski sign0VCP CL E G H7415275872ORPHA035612666601023
HP:0003487HP:0003487Babinski sign0VCP CL E G H7415275872ORPHA039512666601023
HP:0003487HP:0003487Babinski sign0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM087912799605131
HP:0003487HP:0003487Babinski sign0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM076712799605131


Genes (175) :AAAS ABCB7 ABHD12 ACOX1 ADAR ADGRG1 ADPRHL2 AFG3L2 ALDH18A1 ALS2 AP4B1 AP4E1 AP4M1 AP4S1 ARSA ATL1 ATP13A2 ATP6 ATP6AP2 ATXN1 ATXN10 ATXN3 ATXN7 B4GALNT1 BRAT1 BSCL2 C12ORF65 C12orf65 C19ORF12 C19orf12 C9ORF72 CACNA1A CACNA1G CAPN1 CAV1 CCT5 CHCHD10 CHMP2B CNTNAP1 COL4A1 CPT1C CTDP1 CTSF CWF19L1 CYP2U1 CYP7B1 DARS DARS2 DDC DDHD1 DDHD2 DKK1 DNAJC3 DNMT1 DPM3 DSTYK EEF2 EIF2S3 ERLIN1 ERLIN2 FA2H FAM126A FARS2 FBXO7 FTL FUS FXN GAD1 GAN GBA2 GCH1 GJB1 GJC2 GLRX5 GPT2 GRID2 HADHA HADHB HSPD1 HTRA1 IBA57 KCNA1 KDM5C KIF1A KIF1C KIF5A KY LARGE1 LMNB1 MAG MAN2B1 MCOLN1 MDH2 MECP2 MFN2 MT-ATP6 MT-TE MTPAP NDUFS1 NDUFS4 NEFH NEFL NIPA1 NOP56 NT5C2 NUBPL NUP62 OPA1 OPA3 PDYN PGAP1 PIGT PIK3R5 PLA2G6 PLP1 PNPLA6 POLR3A POLR3B PRICKLE1 PRNP PRSS12 PSAP PSEN1 PYCR2 REEP1 REEP2 RNASEH1 RNF170 RTN2 RUSC2 SACS SAMD9L SDHA SDHAF1 SDHB SDHD SETX SIGMAR1 SLC16A2 SLC19A3 SLC1A4 SLC25A46 SLC2A1 SLC33A1 SLC39A14 SNCA SNX14 SPART SPAST SPG11 SPG21 SPG7 SQSTM1 TAF2 TARDBP TBK1 TFG TGM6 TH TPP1 TRMT5 TRNE TSEN15 TSEN2 TTC19 TYROBP UCHL1 VAMP1 VCP VPS13D WASHC5 WWOX ZFR ZFYVE26 ZFYVE27

Diseases (241) :231550 301310 612674 264470 225154 606854 618170 101109 610246 447760 447753 447757 601162 616586 205100 607225 606353 280763 614066 613744 612936 614067 309271 309263 309256 250100 100984 182600 513436 314632 306674 606693 617225 320360 644 363654 300423 300911 164400 98761 276244 276238 276241 109150 94147 164500 101006 609195 614498 100998 270685 320375 615035 289560 320370 614298 615043 275872 98758 458803 616795 488594 616907 606721 139578 256840 615911 614696 600795 618186 175780 444099 616282 604168 615362 453521 320411 615030 100986 270800 615281 611105 608643 101008 609340 615033 268882 445062 616192 314404 263494 270750 101112 300148 615681 209951 611225 171629 612319 610532 617046 171695 260300 606159 95 229300 603513 643 352641 320391 614409 98808 128230 1175 302800 608804 613206 401866 616859 477673 616204 746 100994 612233 605280 600142 468661 616451 160120 300534 101010 614255 610357 397946 611302 604187 496689 608840 169500 459056 616680 248500 252650 617339 300055 99947 609260 254343 613672 618226 252010 616924 617882 100988 600363 276198 614153 320396 613162 618242 210000 258501 101108 610245 401820 615398 64753 610217 99015 312920 139480 612020 447896 607694 612437 282166 249500 611721 249900 607822 616420 610250 615625 616479 608984 100993 604805 617773 98 270550 159550 3208 252011 357043 602433 605726 300523 607483 616657 616505 606777 171863 612539 617013 616354 101000 275900 100985 182601 602099 604360 248900 99013 35689 607259 615599 612069 431329 615658 276193 613908 101150 284324 609270 616539 2596 617026 612389 615157 221770 615491 251282 329475 607317 100989 603563 614322 401840 100996 270700 610244
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.